Deep Blue: Browsing by Author "Hannibal, Mark C."

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Investigation of NRXN1 deletions: Clinical and molecular characterization

Dabell, Mindy Preston; Rosenfeld, Jill A.; Bader, Patricia; Escobar, Luis F.; El‐khechen, Dima; Vallee, Stephanie E.; Dinulos, Mary Beth Palko; Curry, Cynthia; Fisher, Jamie; Tervo, Raymond; Hannibal, Mark C.; Siefkas, Kiana; Wyatt, Philip R.; Hughes, Lauren; Smith, Rosemarie; Ellingwood, Sara; Lacassie, Yves; Stroud, Tracy; Farrell, Sandra A.; Sanchez‐lara, Pedro A.; Randolph, Linda M.; Niyazov, Dmitriy; Stevens, Cathy A.; Schoonveld, Cheri; Skidmore, David; MacKay, Sara; Miles, Judith H.; Moodley, Manikum; Huillet, Adam; Neill, Nicholas J.; Ellison, Jay W.; Ballif, Blake C.; Shaffer, Lisa G. (Wiley Subscription Services, Inc., A Wiley Company, 2013-04)

(1.3MB)
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

Tayeh, Marwan K.; DeVaul, Janean; LeSueur, Kristin; Yang, Chen; Bedoyan, Jirair K.; Thomas, Peedikayil; Hannibal, Mark C.; Innis, Jeffrey W. (John Wiley & Sons, Inc., 2022-07)

(2.2MB) (47.2MB)
Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Kang, Seok Kyu; Vanoye, Carlos G.; Misra, Sunita N.; Echevarria, Dennis M.; Calhoun, Jeffrey D.; O’Connor, John B.; Fabre, Katarina L.; McKnight, Dianalee; Demmer, Laurie; Goldenberg, Paula; Grote, Lauren E.; Thiffault, Isabelle; Saunders, Carol; Strauss, Kevin A.; Torkamani, Ali; der Smagt, Jasper; Gassen, Koen; Carson, Robert P.; Diaz, Jullianne; Leon, Eyby; Jacher, Joseph E.; Hannibal, Mark C.; Litwin, Jessica; Friedman, Neil R.; Schreiber, Allison; Lynch, Bryan; Poduri, Annapurna; Marsh, Eric D.; Goldberg, Ethan M.; Millichap, John J.; George, Alfred L.; Kearney, Jennifer A. (John Wiley & Sons, Inc., 2019-12)

(13.3MB) (4.8MB)